Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.

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Title: Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.
Authors: Sheng W; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, China., Wang P; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Cai Y; Tianjin University Children's Hospital, Tianjin, China.; Institute of Medical Engineering and Translational Medicine, Tianjin University, Tianjin, China., Zhai C; The State Key Laboratory of Medicinal Chemical Biology, Tianjin Key Laboratory of Protein Sciences, College of Life Sciences, Nankai University, Tianjin, China., Wang H; Tianjin Children's Hospital, Tianjin, China.; Department of Neuroloy, Tianjin Children's Hospital, Tianjin, China., Zhou F; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, China., Liu X; Tianjin University Children's Hospital, Tianjin, China.; Institute of Medical Engineering and Translational Medicine, Tianjin University, Tianjin, China., Wang L; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, China., Li D; Tianjin Children's Hospital, Tianjin, China.; Department of Neuroloy, Tianjin Children's Hospital, Tianjin, China., Shu J; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Cai C; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.
Source: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 702-712. Date of Electronic Publication: 2024 Jul 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1399-0004
DOI:10.1111/cge.14600